Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Episode von Medizin - Open Access LMU - Teil 21/22 von Ludwig-Maximilians-Universität München · 1. Januar 2013

Background: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. Study design/methods: Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed. Results: The vast majority of patients (>85\%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls. Conclusion: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.

Weitere Episoden von „Medizin - Open Access LMU - Teil 21/22“

• A genotype-specific, randomized controlled behavioral intervention to improve the neuroemotional outcome of cardiac surgery: study protocol for a randomized controlled trial 1. Januar 2013
• A new web-based method for automated analysis of muscle histology 1. Januar 2013
• Acceptance of routine or case-based inquiry for intimate partner violence: a mixed method study 1. Januar 2013
• Activation of axonal Kv7 channels in human peripheral nerve by flupirtine but not placebo - therapeutic potential for peripheral neuropathies: results of a randomised controlled trial 1. Januar 2013
• Aequilibrium prudentis: on the necessity for ethics and policy studies in the scientific and technological education of medical professionals 1. Januar 2013
• An AUC-based permutation variable importance measure for random forests 1. Januar 2013
• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum 1. Januar 2013
• `Burden to others' as a public concern in advanced cancer: a comparative survey in seven European countries 1. Januar 2013
• Characterization of in vivo chemoresistant human hepatocellular carcinoma cells with transendothelial differentiation capacities 1. Januar 2013
• Conscious Presence and Self Control as a measure of situational awareness in soldiers - A validation study 1. Januar 2013
• Contrast enhanced transesophageal echocardiography in patients with atrial fibrillation referred to electrical cardioversion improves atrial thrombus detection and may reduce associated thromboembolic events 1. Januar 2013
• Current experience with applying the GRADE approach to public health interventions: an empirical study 1. Januar 2013
• Current management of patients hospitalized with community-acquired pneumonia across Europe: outcomes from REACH 1. Januar 2013
• Diversity of the var gene family of Indonesian Plasmodium falciparum isolates 1. Januar 2013
• A comparative analysis of the properties of regulated promoter systems commonly used for recombinant gene expression in Escherichia coli 1. Januar 2013

Alle Episoden von Medizin - Open Access LMU - Teil 21/22 · Mehr Bildung-Podcasts